Canonical Allele Identifier: CA1752433397

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950221A= , CM000669.2:g.150950221A=	GRCh38
NC_000007.13:g.150647309A= , CM000669.1:g.150647309A=	GRCh37
NC_000007.12:g.150278242A=	NCBI36
NG_008916.1:g.32706T= , LRG_288:g.32706T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1643T=
ENST00000684241.1:n.3178T=
ENST00000262186.10:c.2345T= MANE Select	ENSP00000262186.5:p.Ile782=
ENST00000330883.9:c.1325T=	ENSP00000328531.4:p.Ile442=
ENST00000262186.9:c.2345T=	ENSP00000262186.5:p.Ile782=
ENST00000330883.8:c.1325T=	ENSP00000328531.4:p.Ile442=
ENST00000430723.4:c.1997T=	ENSP00000387657.4:p.Ile666=
ENST00000461280.1:n.1632T=
ENST00000473610.5:n.1977T=
ENST00000532957.5:n.2568T=
NM_000238.3:c.2345T= , LRG_288t1:c.2345T=	NP_000229.1:p.Ile782=
NM_001204798.1:c.1325T=	NP_001191727.1:p.Ile442=
NM_172056.2:c.2345T= , LRG_288t2:c.2345T=	NP_742053.1:p.Ile782=
NM_172057.2:c.1325T= , LRG_288t3:c.1325T=	NP_742054.1:p.Ile442=
XM_011516185.1:c.2045T=	XP_011514487.1:p.Ile682=
XM_011516186.1:c.2345T=	XP_011514488.1:p.Ile782=
XM_011516185.2:c.2045T=	XP_011514487.1:p.Ile682=
XM_011516186.3:c.2345T=	XP_011514488.1:p.Ile782=
XM_017012195.1:c.2195T=	XP_016867684.1:p.Ile732=
XM_017012196.1:c.2168T=	XP_016867685.1:p.Ile723=
NM_000238.4:c.2345T= MANE Select	NP_000229.1:p.Ile782=
NM_001204798.2:c.1325T=	NP_001191727.1:p.Ile442=
NM_172057.3:c.1325T=	NP_742054.1:p.Ile442=